Incontinentia pigmenti

Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

Encephalocele

A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.

Total: 3

(per page)

PMID (PMCID)
22767665	FEMALE	Infant
	The results of early physiotherapy on a child with incontinentia pigmenti with encephalocele.
	Kara OK, Mutlu A, Gunel MK. BMJ Case Rep. 2010;2010:.
	This study aimed to exhibit the effects of early physiotherapy and discusses post-treatment results on a patient with incontinentia pigmenti (IP) with encephalocele.
22767665	FEMALE	Infant
	The results of early physiotherapy on a child with incontinentia pigmenti with encephalocele.
	Kara OK, Mutlu A, Gunel MK. BMJ Case Rep. 2010;2010:.
	The results of early physiotherapy on a child with incontinentia pigmenti with encephalocele.
19339289	FEMALE	Infant, Newborn
	Incontinentia pigmenti with encephalocele in a neonate: a rare association.
	Demirel N, Aydin M, Zenciroglu A, Okumus N, Tekgunduz KS, Ipek MS, Boduroglu E. J Child Neurol. 2009;24(4):495-9.
	We report a neonate with incontinentia pigmenti and encephalocele, as a feature of the central nervous system involvement, to stress this uncommon association.